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1.
HLA ; 87(1): 31-5, 2016 Jan.
Article in English | MEDLINE | ID: mdl-26812061

ABSTRACT

We characterized 549 new human leukocyte antigen (HLA) class I and class II alleles found in newly registered stem cell donors as a result of high-throughput HLA typing. New alleles include 101 HLA-A, 132 HLA-B, 105 HLA-C, 2 HLA-DRB1, 89 HLA-DQB1 and 120 HLA-DPB1 alleles. Mainly, new alleles comprised single nucleotide variations when compared with homologous sequences. We identified nonsynonymous nucleotide mutations in 70.7% of all new alleles, synonymous variations in 26.4% and nonsense substitutions in 2.9% (null alleles). Some new alleles (55, 10.0%) were found multiple times, HLA-DPB1 alleles being the most frequent among these. Furthermore, as several new alleles were identified in individuals from ethnic minority groups, the relevance of recruiting donors belonging to such groups and the importance of ethnicity data collection in donor centers and registries is highlighted.


Subject(s)
Alleles , Genetic Loci , HLA Antigens/genetics , Stem Cells/immunology , Tissue Donors , Ethnicity , Gene Expression , Gene Frequency , Germany , HLA Antigens/classification , HLA Antigens/immunology , Humans , Poland , Polymorphism, Single Nucleotide , Protein Isoforms/classification , Protein Isoforms/genetics , Protein Isoforms/immunology , Stem Cell Transplantation , Stem Cells/cytology , United States
2.
Tissue Antigens ; 84(5): 497-502, 2014 Nov.
Article in English | MEDLINE | ID: mdl-25220445

ABSTRACT

We have characterized 372 novel human leukocyte antigen (HLA) class II alleles identified in newly registered stem cell donors, this includes 281 HLA-DRB1 alleles, 89 HLA-DQB1 alleles and 2 HLA-DPB1 alleles. Most novel alleles were single nucleotide variants when compared to their respective most homologous alleles. In 66.4% of all novel alleles non-synonymous nucleotide variations were identified, in 30.4% synonymous substitutions and in 3.2% nonsense mutations. Ninty-three (25.0%) novel alleles were found in several individuals; most often these were novel HLA-DRB1 alleles. Lastly, we underline the importance of recruiting ethnic minority donors in countries such as Germany and the United States, as novel alleles were frequently found among these groups.


Subject(s)
Alleles , Gene Frequency , HLA-DP beta-Chains/genetics , HLA-DQ beta-Chains/genetics , HLA-DRB1 Chains/genetics , Hematopoietic Stem Cell Transplantation , Living Donors , Codon, Nonsense , Female , Germany , Humans , Male , Poland , United States
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